Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 81 variants

NM_001145065.2

p.G382S

c.1144G>A

NM_001145065.2

p.R7K

c.20G>A

NM_001145065.2

p.G40R

c.118G>C

NM_001145065.2

p.K125R

c.374A>G

NM_001145065.2

p.C536F

c.1607G>T

NM_001145065.2

p.R596*

c.1786C>T

NM_001145065.2

p.R766H

c.2297G>A

NM_001145065.2

p.Q849*

c.2545C>T

NM_001145065.2

p.D3Y

c.7G>T

NM_001145065.2

p.R8*

c.22C>T

NM_001145065.2

p.S34S

c.102T>C

NM_001145065.2

p.S52G

c.154A>G